Annotation Detail

Information
Associated Genes
IFIH1
Associated Variants
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) AND not provided
ClinVar Allele ID
250306
ClinVar RefSeq Alternation Syntax
NM_022168.4:c.2836G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-11-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001618467
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs